Features include always present findings: Global developmental delay. 43 total HPO annotations.

CD96 encodes CD96 molecule (585 aa). May be involved in adhesive interactions of activated T and NK cells during the late phase of the immune response. Promotes NK cell-target adhesion by interacting with PVR present on target cells. Highest expression in Spleen (11.0 TPM) and Whole Blood (8.2 TPM).

C syndrome has limited evidence linking it to mutations in the CD96 gene on chromosome 3.

CD96 is classified as a druggable target (Druggable Genome category) with score 2.0.

Genetic testing for CD96 is available. Testing is considered research-grade for diagnosis.

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: 1-9 in 1,000,000 (Rare).

No clinical trials have been registered for C syndrome.

9 publications have been identified in PubMed for C syndrome. Research spans Basic Science / Preclinical (44%), Epidemiology / Natural History (22%), and Review / Meta-Analysis (11%).

Recent Publications

• Genaro LM (2025). [PMID: 39959979](https://pubmed.ncbi.nlm.nih.gov/39959979/). *International journal of immunopathology and pharmacology*. [Basic Science / Preclinical]

• Qian D (2025). [PMID: 41254994](https://pubmed.ncbi.nlm.nih.gov/41254994/). *Annals of medicine*. [Review / Meta-Analysis]

• Lu H (2025). [PMID: 40231264](https://pubmed.ncbi.nlm.nih.gov/40231264/). *Frontiers in oncology*. [Basic Science / Preclinical]

• Wang H (2025). [PMID: 40660273](https://pubmed.ncbi.nlm.nih.gov/40660273/). *Italian journal of pediatrics*. [Case Report / Case Series]

• Sphitzen S (2025). [PMID: 40476138](https://pubmed.ncbi.nlm.nih.gov/40476138/). *Frontiers in cardiovascular medicine*. [Epidemiology / Natural History]